Incidental Mutation 'R4571:Topaz1'
| ID |
342146 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Topaz1
|
| Ensembl Gene |
ENSMUSG00000094985 |
| Gene Name |
testis and ovary specific PAZ domain containing 1 |
| Synonyms |
Gm9524 |
| MMRRC Submission |
041795-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R4571 (G1)
|
| Quality Score |
160 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
122576411-122631200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122576501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 31
(T31A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136304
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178679]
|
| AlphaFold |
E5FYH1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178679
AA Change: T31A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000136304
Gene: ENSMUSG00000094985
AA Change: T31A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
27 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
251 |
N/A |
INTRINSIC |
|
low complexity region
|
531 |
545 |
N/A |
INTRINSIC |
|
low complexity region
|
821 |
832 |
N/A |
INTRINSIC |
|
low complexity region
|
1129 |
1139 |
N/A |
INTRINSIC |
|
Pfam:Asp_Glu_race_2
|
1189 |
1422 |
3.6e-157 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213519
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (69/69) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility associated with abnormal meiosis and apoptosis of male germ cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
T |
11: 109,920,884 (GRCm39) |
C1497S |
probably damaging |
Het |
| Acoxl |
G |
T |
2: 127,719,727 (GRCm39) |
G163W |
probably damaging |
Het |
| Apbb1 |
T |
A |
7: 105,222,969 (GRCm39) |
N214I |
probably damaging |
Het |
| Apol7b |
T |
C |
15: 77,307,734 (GRCm39) |
K254E |
probably benign |
Het |
| Arl4d |
T |
A |
11: 101,557,969 (GRCm39) |
V165E |
possibly damaging |
Het |
| Brca1 |
C |
A |
11: 101,408,192 (GRCm39) |
R1377L |
probably benign |
Het |
| Btf3 |
A |
G |
13: 98,449,792 (GRCm39) |
F65L |
probably benign |
Het |
| C2 |
T |
C |
17: 35,082,635 (GRCm39) |
N495D |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 118,607,341 (GRCm39) |
T1188A |
probably benign |
Het |
| Chd7 |
C |
A |
4: 8,866,217 (GRCm39) |
D796E |
probably benign |
Het |
| Clasp2 |
G |
T |
9: 113,676,789 (GRCm39) |
L173F |
probably damaging |
Het |
| Clec4g |
A |
T |
8: 3,768,766 (GRCm39) |
|
probably null |
Het |
| Col9a3 |
T |
C |
2: 180,258,159 (GRCm39) |
|
probably benign |
Het |
| Csmd2 |
T |
A |
4: 128,373,888 (GRCm39) |
|
probably null |
Het |
| Ddx11 |
T |
C |
17: 66,437,768 (GRCm39) |
C165R |
probably benign |
Het |
| Dnah7c |
A |
C |
1: 46,572,376 (GRCm39) |
M950L |
probably damaging |
Het |
| Dusp23 |
A |
C |
1: 172,460,181 (GRCm39) |
|
probably null |
Het |
| Ebag9 |
A |
T |
15: 44,500,158 (GRCm39) |
|
probably null |
Het |
| Edn3 |
G |
A |
2: 174,623,697 (GRCm39) |
A211T |
probably benign |
Het |
| Eif3e |
G |
A |
15: 43,129,558 (GRCm39) |
T190I |
possibly damaging |
Het |
| Fam76a |
T |
C |
4: 132,648,208 (GRCm39) |
H3R |
possibly damaging |
Het |
| Gabbr1 |
G |
T |
17: 37,365,128 (GRCm39) |
E138* |
probably null |
Het |
| Galc |
T |
C |
12: 98,188,876 (GRCm39) |
T412A |
probably benign |
Het |
| Gimap3 |
T |
C |
6: 48,742,654 (GRCm39) |
D92G |
possibly damaging |
Het |
| Gin1 |
T |
C |
1: 97,712,801 (GRCm39) |
Y285H |
probably damaging |
Het |
| Gm4868 |
A |
G |
5: 125,925,782 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7052 |
T |
A |
17: 22,259,405 (GRCm39) |
|
probably benign |
Het |
| Gpcpd1 |
T |
A |
2: 132,392,270 (GRCm39) |
E226D |
probably benign |
Het |
| Hoxb4 |
T |
C |
11: 96,209,992 (GRCm39) |
S133P |
possibly damaging |
Het |
| Hrg |
C |
T |
16: 22,779,972 (GRCm39) |
|
probably benign |
Het |
| Insrr |
A |
G |
3: 87,708,194 (GRCm39) |
K212R |
probably benign |
Het |
| Ipp |
A |
G |
4: 116,387,655 (GRCm39) |
D411G |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,902,461 (GRCm39) |
F172L |
probably damaging |
Het |
| Kdm5d |
T |
C |
Y: 927,110 (GRCm39) |
F616S |
probably damaging |
Het |
| Lars1 |
T |
C |
18: 42,361,295 (GRCm39) |
|
probably null |
Het |
| Lmo7 |
G |
T |
14: 102,125,030 (GRCm39) |
Q496H |
probably damaging |
Het |
| Map3k9 |
C |
A |
12: 81,780,865 (GRCm39) |
A432S |
probably benign |
Het |
| Nop2 |
T |
G |
6: 125,117,844 (GRCm39) |
|
probably null |
Het |
| Nup50l |
T |
A |
6: 96,141,862 (GRCm39) |
N394I |
probably damaging |
Het |
| Or10ag53 |
C |
A |
2: 87,082,802 (GRCm39) |
Q174K |
possibly damaging |
Het |
| Or2h2 |
T |
C |
17: 37,396,471 (GRCm39) |
I195M |
probably damaging |
Het |
| Or5m11b |
A |
T |
2: 85,806,175 (GRCm39) |
E196V |
probably damaging |
Het |
| Or6k2 |
A |
T |
1: 173,986,494 (GRCm39) |
N52Y |
possibly damaging |
Het |
| Pan2 |
A |
G |
10: 128,144,512 (GRCm39) |
T187A |
probably benign |
Het |
| Pcmtd2 |
A |
G |
2: 181,484,217 (GRCm39) |
E9G |
possibly damaging |
Het |
| Pik3cb |
T |
A |
9: 98,972,310 (GRCm39) |
I283F |
possibly damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,683,633 (GRCm39) |
T40I |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,493,296 (GRCm39) |
V1857A |
possibly damaging |
Het |
| Polg |
T |
C |
7: 79,110,127 (GRCm39) |
S334G |
probably damaging |
Het |
| Rem2 |
T |
C |
14: 54,715,116 (GRCm39) |
S98P |
probably damaging |
Het |
| Rpl5-ps2 |
G |
T |
2: 154,546,156 (GRCm39) |
|
noncoding transcript |
Het |
| Slc6a18 |
A |
T |
13: 73,814,489 (GRCm39) |
N468K |
possibly damaging |
Het |
| Slco4a1 |
A |
T |
2: 180,106,171 (GRCm39) |
T118S |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,738,688 (GRCm39) |
N3520K |
possibly damaging |
Het |
| Tapbp |
C |
A |
17: 34,145,427 (GRCm39) |
D415E |
probably damaging |
Het |
| Trpv6 |
C |
T |
6: 41,598,678 (GRCm39) |
R649H |
probably damaging |
Het |
| Vmn1r188 |
A |
G |
13: 22,272,688 (GRCm39) |
Y214C |
probably benign |
Het |
| Vps8 |
T |
A |
16: 21,254,525 (GRCm39) |
I59N |
probably damaging |
Het |
| Wnt9a |
T |
C |
11: 59,222,163 (GRCm39) |
C354R |
probably damaging |
Het |
| Zcchc2 |
A |
G |
1: 105,958,987 (GRCm39) |
T1153A |
possibly damaging |
Het |
| Zfp30 |
A |
G |
7: 29,492,627 (GRCm39) |
R294G |
probably damaging |
Het |
| Zfp558 |
A |
T |
9: 18,367,799 (GRCm39) |
C330S |
possibly damaging |
Het |
| Zfp62 |
A |
C |
11: 49,106,568 (GRCm39) |
S220R |
probably damaging |
Het |
| Zfp62 |
G |
T |
11: 49,106,569 (GRCm39) |
S220I |
probably damaging |
Het |
| Zp3r |
A |
G |
1: 130,505,757 (GRCm39) |
S423P |
probably damaging |
Het |
|
| Other mutations in Topaz1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0083:Topaz1
|
UTSW |
9 |
122,604,674 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0098:Topaz1
|
UTSW |
9 |
122,619,188 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0098:Topaz1
|
UTSW |
9 |
122,619,188 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0108:Topaz1
|
UTSW |
9 |
122,604,674 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0220:Topaz1
|
UTSW |
9 |
122,578,368 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0519:Topaz1
|
UTSW |
9 |
122,578,544 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0617:Topaz1
|
UTSW |
9 |
122,578,971 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0637:Topaz1
|
UTSW |
9 |
122,626,727 (GRCm39) |
missense |
probably benign |
|
|
R0637:Topaz1
|
UTSW |
9 |
122,620,542 (GRCm39) |
nonsense |
probably null |
|
|
R1368:Topaz1
|
UTSW |
9 |
122,577,315 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1519:Topaz1
|
UTSW |
9 |
122,596,076 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1526:Topaz1
|
UTSW |
9 |
122,625,108 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1634:Topaz1
|
UTSW |
9 |
122,609,740 (GRCm39) |
splice site |
probably benign |
|
|
R1871:Topaz1
|
UTSW |
9 |
122,628,544 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1879:Topaz1
|
UTSW |
9 |
122,578,684 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1913:Topaz1
|
UTSW |
9 |
122,596,078 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1977:Topaz1
|
UTSW |
9 |
122,576,427 (GRCm39) |
missense |
unknown |
|
|
R1989:Topaz1
|
UTSW |
9 |
122,579,190 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2237:Topaz1
|
UTSW |
9 |
122,600,212 (GRCm39) |
missense |
probably benign |
|
|
R2238:Topaz1
|
UTSW |
9 |
122,600,212 (GRCm39) |
missense |
probably benign |
|
|
R2239:Topaz1
|
UTSW |
9 |
122,600,212 (GRCm39) |
missense |
probably benign |
|
|
R3160:Topaz1
|
UTSW |
9 |
122,578,446 (GRCm39) |
missense |
probably benign |
0.33 |
|
R3161:Topaz1
|
UTSW |
9 |
122,578,446 (GRCm39) |
missense |
probably benign |
0.33 |
|
R3162:Topaz1
|
UTSW |
9 |
122,578,446 (GRCm39) |
missense |
probably benign |
0.33 |
|
R3821:Topaz1
|
UTSW |
9 |
122,626,848 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3822:Topaz1
|
UTSW |
9 |
122,626,848 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3944:Topaz1
|
UTSW |
9 |
122,579,669 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4580:Topaz1
|
UTSW |
9 |
122,576,580 (GRCm39) |
missense |
probably null |
0.00 |
|
R5043:Topaz1
|
UTSW |
9 |
122,577,469 (GRCm39) |
missense |
probably benign |
|
|
R5084:Topaz1
|
UTSW |
9 |
122,577,883 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5234:Topaz1
|
UTSW |
9 |
122,619,258 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5388:Topaz1
|
UTSW |
9 |
122,603,158 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5471:Topaz1
|
UTSW |
9 |
122,620,481 (GRCm39) |
splice site |
probably null |
|
|
R5706:Topaz1
|
UTSW |
9 |
122,628,550 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5993:Topaz1
|
UTSW |
9 |
122,578,104 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6104:Topaz1
|
UTSW |
9 |
122,578,931 (GRCm39) |
missense |
probably benign |
|
|
R6137:Topaz1
|
UTSW |
9 |
122,626,821 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6186:Topaz1
|
UTSW |
9 |
122,577,891 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6209:Topaz1
|
UTSW |
9 |
122,579,570 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6543:Topaz1
|
UTSW |
9 |
122,577,600 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6548:Topaz1
|
UTSW |
9 |
122,577,419 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6557:Topaz1
|
UTSW |
9 |
122,577,960 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6636:Topaz1
|
UTSW |
9 |
122,578,851 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6637:Topaz1
|
UTSW |
9 |
122,578,851 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6859:Topaz1
|
UTSW |
9 |
122,631,023 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7123:Topaz1
|
UTSW |
9 |
122,577,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7180:Topaz1
|
UTSW |
9 |
122,626,770 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7319:Topaz1
|
UTSW |
9 |
122,579,428 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7743:Topaz1
|
UTSW |
9 |
122,614,201 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7810:Topaz1
|
UTSW |
9 |
122,578,250 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7871:Topaz1
|
UTSW |
9 |
122,609,765 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7875:Topaz1
|
UTSW |
9 |
122,578,652 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7916:Topaz1
|
UTSW |
9 |
122,576,499 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8116:Topaz1
|
UTSW |
9 |
122,604,708 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8437:Topaz1
|
UTSW |
9 |
122,610,427 (GRCm39) |
nonsense |
probably null |
|
|
R8470:Topaz1
|
UTSW |
9 |
122,603,173 (GRCm39) |
missense |
probably benign |
|
|
R8487:Topaz1
|
UTSW |
9 |
122,579,001 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8493:Topaz1
|
UTSW |
9 |
122,579,573 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8919:Topaz1
|
UTSW |
9 |
122,626,930 (GRCm39) |
splice site |
probably benign |
|
|
R8922:Topaz1
|
UTSW |
9 |
122,625,101 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9019:Topaz1
|
UTSW |
9 |
122,619,192 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9126:Topaz1
|
UTSW |
9 |
122,625,228 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9230:Topaz1
|
UTSW |
9 |
122,596,097 (GRCm39) |
missense |
probably benign |
|
|
R9302:Topaz1
|
UTSW |
9 |
122,617,887 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9408:Topaz1
|
UTSW |
9 |
122,626,728 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9469:Topaz1
|
UTSW |
9 |
122,577,585 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9487:Topaz1
|
UTSW |
9 |
122,604,707 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9557:Topaz1
|
UTSW |
9 |
122,578,530 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9564:Topaz1
|
UTSW |
9 |
122,579,219 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9726:Topaz1
|
UTSW |
9 |
122,603,935 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9726:Topaz1
|
UTSW |
9 |
122,603,934 (GRCm39) |
critical splice donor site |
probably benign |
|
|
X0020:Topaz1
|
UTSW |
9 |
122,603,134 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
Z1176:Topaz1
|
UTSW |
9 |
122,620,559 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCCTGTAGTGTCGGGTAC -3'
(R):5'- ATGAGAGAGGGTTCTGCCTC -3'
Sequencing Primer
(F):5'- AGTGTCGGGTACAGGGTC -3'
(R):5'- GAGAGGGTTCTGCCTCCTTCAC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation